A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749894



Internal ID9984178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75326873..75749895hg38UCSC Ensembl
Outerchr15:75619214..76042236hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38423023
hg19423023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755896, essv6835275, essv6867708, essv6877002, essv6748042, essv6877003, essv6728714
SamplesSSM046, SSM058, SSM092, SSM089, SSM001, SSM082
Known GenesCOMMD4, CSPG4, DNM1P35, IMP3, MAN2C1, MIR631, NEIL1, ODF3L1, PTPN9, SIN3A, SNUPN, SNX33
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2749894
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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